Yu pikin in mɛtabolism de wok fayn fayn wan? (Lɛ wi lan bɔt di Inborn Errors of Metabolism)

Yu smɔl pikin nɔ de gɛt mɔ wet lɛk aw yu bin de tink? Ɔ i kin taya ɛn slip ɔltɛm? Sɔmtɛm, biɛn dɛn tin ya, wan mɛrɛsin kin de we wi nɔ kin yɛri bɔku bɔt, bɔt i kin rili impɔtant. Tide wi de tɔk bɔt dis kayn kɔndishɔn. Dat na di mistek dεm we dεn bכn wit fכ mεtabolism, כ insay mεdikal tεm dεm, di kכndyushכn we dεn kכl Inborn Errors of Metabolism (IEM) . Nɔ fred, ivin if di nem kɔmplikt smɔl, lɛ wi tɔk bɔt am simpul wan.

Wetin na dis ‘mɛtabolik prɔses’?

Fɔ tɔk am simpul wan, wi bɔdi tan lɛk motoka in injin. Di it we wi de it ɛn drink na di fiul we de gi dis injin pawa. mεtabolism na di כl prכsεs fכ tek dis fiul εn tכn am to enεji, mek di tin dεm we di bכdi nid fכ gro, εn pul di west prכduk dεm. We dis de wok fayn, wi bɔdi kin gɛt wɛlbɔdi.

so, inborn error of mεtabolism (IEM) na sכm, inborn error sכmsay na dis injin, dis mεtabolism prכsεs. Dis kin mek di bɔdi nɔ ebul fɔ chenj sɔm it dɛn fayn fayn wan to ɛnaji, ɔ i nɔ kin ebul fɔ pul di bad bad pɔyzin dɛn na di bɔdi, we kin gɛda na di bɔdi.

Wetin na di men kayn IEM kwaliti?

Bɔku bɔku tin dɛn de we tan lɛk dis. Ɛni wan pan dɛn difrɛn. Bɔt lɛ wi no bɔt sɔm pan di kayn dɛn we pipul dɛn kin gɛt. dεn kin gi dεn nem dεm afta di εnzym we nכ de wok fayn.

Wetin mek dis kin apin? Udat dis kin apin to?

Dis na di tin we impɔtant pas ɔl. Dɛn tin ya kin apin bikɔs ɔf wan jenɛtik muteshɔn . Dat min se, nɔto bikɔs ɔf ɛni fɔlt we di mama ɔ papa gɛt. i de kכz fכ wan chenj we rili sכmtεm we de apin di tεm we di sεl dεm de sheb we dεn bכn pikin.

di jin dεm na wi bכdi de instrכkt wi fכ mek protin dεm we dεn kכl εnzym dεm we nid fכ mεtabolik prכsεs dεm. Tink bɔt dɛn ɛnzaym ya as di wan dɛn we de wok na wi bɔdi. Insay di kes fɔ IEM, wetin kin apin na dat bikɔs ɔf da jenɛtik dɛfɛkt de, dɛn wokman ya nɔ kin gɛt di instrɔkshɔn fɔ wok fayn.

Wetin na di sayn dɛm fɔ dis sik?

Di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin ɛn i kin difrɛn frɔm di kayn sik. Sɔmtɛm de sik kin rili shɔt, ɔda tɛm dɛn kin tranga. Na sɔm pan de sik wae kin kam pan pɔrsin.

• Growth failure: We yu nɔ ebul fɔ gɛt wet ɔ ayt.
• Fil fɔ it:Di pikin nɔ want fɔ it ɔ drink milk.
• I kin taya ɛn slip ɔltɛm: Bɔku tɛm di pikin kin taya ɛn i nɔ kin du tin.
• We yu de lɔs yu wet.
• Fɔ gɛt fit (seizures).
• Nɔmal smel we pɔsin kin smɛl we i de urine, we i de swet, ɔ we i de blo: Fɔ ɛgzampul, sɔm sik dɛn kin gɛt swit smel, ɛn ɔda wan dɛn kin gɛt difrɛn smel atɔl.
• Bɛlɛ de at ɛn vɔmit.

Nɔto ɔl pikin we gɛt dɛn sik ya gɛt IEM, bɔt if wan ɔ mɔ pan dɛn sik ya kɔntinyu, i impɔtant fɔ go to dɔktɔ wantɛm wantɛm.

Aw fɔ no dis sik?

Bɔt gud tin na dat, tide, dɛn kin no bɔku pan dɛn sik ya jɔs afta dɛn bɔn am. Insay sɔm kɔntri dɛn, dɛn kin no dɛn tin ya bay we dɛn de chɛk di pikin dɛn we dɛn jɔs bɔn. Insay Sri Lanka, dɛn kin du dɛn tɛst ya bak fɔ sɔm sik dɛn.

Di men tɛst dɛm wae dɛn kin yuse fɔ no di sik na:

• Blɔd ɛn urine tɛst (Mɛtabolik tɛst): Dɛn tin ya kin no bɔt di kayn kemikal dɛn we nɔ de na di bɔdi we dɔn gɛda na di bɔdi.
• Jɛnɛtik tɛst: Blɔd sɛmpul ɔ saliva sɛmpul kin ɛp fɔ no ustɛm di jin nɔ fayn.
• Amniocentesis: we uman bεlε, dεn kin tek sכm sכm sכm sכm sכm sεmpl fכ di amniotic fluid we de rawnd di pikin fכ si if di pikin gεt dis kכndyushכn.
• Ay ɛgzam: Dɛn kin du ay ɛgzam bak, bikɔs sɔm IEM kɔndishɔn dɛn kin afɛkt di yay bak.

Aw dɛn kin trit am?

Di we aw dɛn kin trit am kin difrɛn difrɛn wan bay di kayn sik, bɔt di men gol na fɔ stɔp di bɔdi fɔ tek tin dɛn we i nɔ ebul fɔ du ɛn fɔ pul di pɔyzin we dɔn gɛda na di bɔdi.

1. Chenj yu it: Dis na di men tritmɛnt. di it dεm we di bכdi nכ ebul fכ proses (e.g. sכm protin dεm, fεt dεm) fכ kכmplit kכl fכ di it. Dis nid fɔ gɛt advays frɔm pɔsin we sabi bɔt it ɛn dɔktɔ.

2. Fɔ tek mɛrɛsin: Dɛn kin gi di ɛnzaym riplesmɛnt ɔ mɛrɛsin we de ɛp fɔ pul di pɔyzin fɔ tek di bɔdi in ɛnzaym dɛn we nɔ de.

3. Dayalaysis: Sɔntɛnde sik dɛn we kin rili bad, dɛn kin nid fɔ pul di pɔyzin we dɔn gɛda na di blɔd wit di ɛp fɔ mashin.

4. Ɔgan transplant: If i rili siriɔs, i kin nid fɔ transplant liva, fɔ ɛgzampul.

Ustɛm a fɔ go to dɔktɔ?

If yu na mama we gɛt bɛlɛ, tɔk to yu dɔktɔ bɔt di tɛst dɛn we dɛn kin du fɔ yu pikin.

If yu pikin gɛt ɛni wan pan di sik dɛn we wi dɔn tɔk bɔt, mɔ if ɛni prɔblɛm de we i de gro, mek shɔ se yu go to dɔktɔ we de mɛn pikin dɛn.

Di tin we impɔtant pas ɔl: If yu pikin gɛt sik ɔ i dɔn taya bad bad wan, kɛr am go na di ɔspitul we de nia yu Imejɛnsi Tritmɛnt Yunit (ETU) wantɛm wantɛm.

Fɔ liv wit dɛn tin ya kin tranga, mɔ we i kam pan it. Bɔt if dɛn gi dɛn pikin ya di rayt advays ɛn tritmɛnt, dɛn kin liv nɔmal layf ɛn gladi at.